FRMD4A

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the FRMD4A gene was identified in a male, age 13 with intellectual disability, absent speech, seizures, abnormality of brain white matter (periventricular leukomalacia), and excess curvature of the spine (kyphosis, scoliosis) (read full description).

Date of Report

Feb 21, 2019

Full Name

FERM domain containing 4A

Location

Chromosome 10 (10p13)

Function

The FRMD4A gene codes for a protein that regulates epithelial cell polarity and plays a role in cell-cell junctions (Ikenouchi J. and Umeda M., 2010).

Database Links

GeneCards: FRMD4A

NCBI Gene: 55691

OMIM: 616305

UniProtKB/Swiss-Prot: Q9P2Q2

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene FRMD4A

Inheritance Pattern Autosomal recessive

Position (hg19) chr10:g.13743458G>A

Transcript NM_018027.3

DNA Change c.857C>T

Protein Change p.Thr286Met

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